Canonical Allele Identifier: CA379352004

Gene: CAVIN3

Linked Data

• gnomAD v4: 11-6319261-G-T
• MyVariant Identifiers: chr11:g.6340491G>T (hg19) ; chr11:g.6319261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319261G>T , CM000673.2:g.6319261G>T	GRCh38
NC_000011.9:g.6340491G>T , CM000673.1:g.6340491G>T	GRCh37
NC_000011.8:g.6297067G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.688C>A MANE Select	ENSP00000307292.3:p.Pro230Thr
ENST00000303927.3:c.688C>A	ENSP00000307292.3:p.Pro230Thr
ENST00000524852.1:n.474C>A
ENST00000530979.1:c.784C>A	ENSP00000432047.1:p.Pro262Thr
ENST00000532354.1:n.710C>A
NM_145040.2:c.688C>A	NP_659477.2:p.Pro230Thr
XR_930997.1:n.720+1041G>T
XR_242848.4:n.121G>T
NM_145040.3:c.688C>A MANE Select	NP_659477.2:p.Pro230Thr